DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinal Dystrophies ×

Variants associated to the Gene: RBP3 ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs782215106	RBP3			10	47348733	missense variant	C/A;T	snv	4.0E-06; 3.2E-05		1
rs782469310	RBP3			10	47349721	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		1